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Cytochrome-c Oxidase Deficiency

Go to external page http://purl.bioontology.org/ontology/MESH/D030401

A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)

Instance info

Synonyms

Oxidase Deficiency, Cytochrome-c, Cox Deficiencies, Deficiency, Cox, Complex IV Deficiency, Deficiency, Cytochrome Oxidase, Deficiency, Cytochrome-c Oxidase, Oxidase Deficiencies, Cytochrome-c, Cytochrome C Oxidase Deficiency, Cytochrome Oxidase Deficiency, Deficiencies, Cytochrome-c Oxidase, Deficiencies, Complex IV, Deficiencies, Cox, Deficiency, Complex IV, Cytochrome Oxidase Deficiencies, Deficiency, Cytochrome c Oxidase, Deficiencies, Cytochrome Oxidase, Oxidase Deficiencies, Cytochrome, Complex IV Deficiencies, Mitochondrial Complex IV Deficiency, Cytochrome-c Oxidase Deficiencies, Oxidase Deficiency, Cytochrome, Cox Deficiency, Cytochrom-c-Oxidasemangel (DE)

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

20020101

FX

D003576

HN

2002

MDA

20010725

MMR

20130708

MN

C16.320.565.240,C18.452.660.195

PM

2002

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

RO

http://purl.bioontology.org/ontology/MESH/D003576,http://purl.bioontology.org/ontology/MESH/D007888

SIB

http://purl.bioontology.org/ontology/MESH/D020739,http://purl.bioontology.org/ontology/MESH/D008052,http://purl.bioontology.org/ontology/MESH/D018901,http://purl.bioontology.org/ontology/MESH/D015324,http://purl.bioontology.org/ontology/MESH/D011686,http://purl.bioontology.org/ontology/MESH/D015325,http://purl.bioontology.org/ontology/MESH/D011371,http://purl.bioontology.org/ontology/MESH/D015499,http://purl.bioontology.org/ontology/MESH/D016464,http://purl.bioontology.org/ontology/MESH/D008664,http://purl.bioontology.org/ontology/MESH/D043202,http://purl.bioontology.org/ontology/MESH/D029242,http://purl.bioontology.org/ontology/MESH/D029241,http://purl.bioontology.org/ontology/MESH/D028226,http://purl.bioontology.org/ontology/MESH/D020165,http://purl.bioontology.org/ontology/MESH/D000592,http://purl.bioontology.org/ontology/MESH/D054069,http://purl.bioontology.org/ontology/MESH/D020157,http://purl.bioontology.org/ontology/MESH/D005621,http://purl.bioontology.org/ontology/MESH/D007625,http://purl.bioontology.org/ontology/MESH/D017240,http://purl.bioontology.org/ontology/MESH/D007888,http://purl.bioontology.org/ontology/MESH/D006933,http://purl.bioontology.org/ontology/MESH/D002239

TERMUI

T812182,T812183,T443344,T443346,T843579,T843578,T447259

TH

GHR (2014),OMIM (2013),NLM (2002)

cui

C0268237

hasSTY

http://purl.bioontology.org/ontology/STY/T047,http://purl.bioontology.org/ontology/STY/T019

mapped from

http://purl.bioontology.org/ontology/MESH/C537004,http://purl.bioontology.org/ontology/MESH/C565784

tui

T019,T047

Instance relations

Types